Variant report

Variant	esv3403477
Chromosome Location	chr16:59259851-59260849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:59240463..59243229-chr16:59257900..59260501,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564897836	chr16:59259856-59259857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557247135	chr16:59259861-59259862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180816801	chr16:59259867-59259868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556888693	chr16:59259879-59259880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372084774	chr16:59259988-59259989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76101875	chr16:59260023-59260024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574372996	chr16:59260031-59260032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372368300	chr16:59260044-59260045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575257688	chr16:59260096-59260097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60261879	chr16:59260142-59260143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557783313	chr16:59260157-59260158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572880390	chr16:59260159-59260160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540307706	chr16:59260169-59260170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553303548	chr16:59260171-59260172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185215588	chr16:59260177-59260178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376376064	chr16:59260183-59260184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202135405	chr16:59260188-59260189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60603384	chr16:59260193-59260194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372597730	chr16:59260201-59260202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200308621	chr16:59260203-59260204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368856240	chr16:59260204-59260205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376583691	chr16:59260205-59260206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530822744	chr16:59260208-59260209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60300723	chr16:59260212-59260213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374273098	chr16:59260213-59260214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200980841	chr16:59260221-59260222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57773959	chr16:59260230-59260231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61690381	chr16:59260247-59260248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57653976	chr16:59260249-59260250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547876965	chr16:59260253-59260254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56936351	chr16:59260257-59260258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201870064	chr16:59260258-59260259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57597575	chr16:59260259-59260260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201086348	chr16:59260260-59260261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199691394	chr16:59260261-59260262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61633944	chr16:59260263-59260264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199862772	chr16:59260277-59260278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61508422	chr16:59260278-59260279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11862495	chr16:59260283-59260284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534336607	chr16:59260294-59260295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373434999	chr16:59260304-59260305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574945877	chr16:59260307-59260308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542159805	chr16:59260325-59260326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190813027	chr16:59260346-59260347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115980937	chr16:59260384-59260385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531109003	chr16:59260396-59260397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564257645	chr16:59260409-59260410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181990579	chr16:59260418-59260419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564127106	chr16:59260423-59260424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376738359	chr16:59260429-59260430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59258800-59263400	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links